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Purpose: To demonstrate papillary imaging of eyes with optic disc pits (ODP) or optic disc pit associated maculopathy (ODP-M) with ultrahigh-speed swept-source optical coherence tomography (SS-OCT) at 1.68 million A-scans/s. To generate 3D-renderings of the papillary area with 3D volume-reconstructions of the ODP and highly resolved en face images from a single densely-sampled megahertz-OCT (MHz-OCT) dataset for investigation of ODP-characteristics., Methods: A 1.68 MHz-prototype SS-MHz-OCT system at 1050 nm based on a Fourier-domain mode-locked laser was employed to acquire high-definition, 3D datasets with a dense sampling of 1600 × 1600 A-scans over a 45° field of view. Six eyes with ODPs, and two further eyes with glaucomatous alteration or without ocular pathology are presented. 3D-rendering of the deep papillary structures, virtual 3D-reconstructions of the ODPs and depth resolved isotropic en face images were generated using semiautomatic segmentation., Results: 3D-rendering and en face imaging of the optic disc, ODPs and ODP associated pathologies showed a broad spectrum regarding ODP characteristics. Between individuals the shape of the ODP and the appending pathologies varied considerably. MHz-OCT en face imaging generates distinct top-view images of ODPs and ODP-M. MHz-OCT generates high resolution images of retinal pathologies associated with ODP-M and allows visualizing ODPs with depths of up to 2.7 mm., Conclusions: Different patterns of ODPs can be visualized in patients for the first time using 3D-reconstructions and co-registered high-definition en face images extracted from a single densely sampled 1050 nm megahertz-OCT (MHz-OCT) dataset. As the immediate vicinity to the SAS and the site of intrapapillary proliferation is located at the bottom of the ODP it is crucial to image the complete structure and the whole depth of ODPs. Especially in very deep pits, where non-swept-source OCT fails to reach the bottom, conventional swept-source devices and the MHz-OCT alike are feasible and beneficial methods to examine deep details of optic disc pathologies, while the MHz-OCT bears the advantage of an essentially swifter imaging process.

Purpose: To investigate the structural changes of intrapapillary proliferations associated with optic disk pits (ODPs) and optic disk pit maculopathy (ODP-M) using enhanced depth-spectral domain-optical coherence tomography (SD-EDI-OCT) and megahertz optical coherence tomography (MHz-OCT)., Methods: Sixteen eyes of patients with ODPs were studied. Papillary and peripapillary areas were repeatedly examined with SD-EDI-OCT over time. To evaluate swept-source OCT, some of the patients additionally received MHz-OCT-imaging., Results: MHz-OCT or SD-EDI images showed the entire form of the pits from opening to bottom in 13 of the 16 cases. The shape of ODPs varied considerably. In patients with unilateral ODP, deep intrapapillary depressions in the optic disk of the contralateral partner eye were a prevalent finding. Intrapapillary proliferations were observed in all ODP-cases during follow-up. The aspect of intrapapillary and prepapillary tissue, septae, and cavities changed over time. This effect was especially pronounced inside the ODP while the eye experienced simultaneous ODP-M., Conclusion: All examined eyes with ODP showed signs of intrapapillary and prepapillary tissue, which developed over time. SD-EDI-OCT and MHz-OCT are able to detect characteristic ODP-related findings and are a useful means to monitor time-related changes within intrapapillary and prepapillary tissue related to ODP and ODP-M.

Optic disc drusen are an important differential diagnosis in the diagnostic evaluation of a prominent optic nerve head. Drusen of the optic disc occur in 0.34 to 2.4 % of human individuals and manifest themselves bilaterally in three of four cases. Drusen are found six times more often within histological sections than on funduscopic examination. It is known that optic disc drusen can occur in familial clusters without any other pathological ophthalmic findings. They can also be associated with retinitis pigmentosa, or with the Joubert or Alagille syndromes. Non-invasive diagnostic tools include fundus-autofluorescence (AF), optical coherence tomography (OCT) and ultrasound. Drusen of the optic nerve head are asymptomatic in most cases, though transient ischemia can lead to transient visual impairment. In particular, superficial drusen can lead to profound visual field defects in adulthood. Regular ophthalmological follow-up examinations with tonometry and perimetry are recommended for the early detection of visual field defects. Radial optic neurotomy (RON) seems to be a therapeutic option in patients with acute deterioration of the visual field., (Georg Thieme Verlag KG Stuttgart · New York.)

Knowledge about hereditary eye diseases has been substantially increased by means of genetic testing during the last decade. This has resulted in a new classification of a number of disease patterns, which are characterised by non-progressive restrictive disorders of the oculomotor system, formerly classified as "congenital fibrosis syndromes". Based on the results of genetic testing, these ocular motility disorders are now referred to as "congenital cranial dysinnervation disorders" (CCDDs). They are caused by an impaired innervation of extraocular muscles because of a dysgenesis of the nuclei of the affected cranial nerves in the brainstem and pons and not by primary fibrosis of the extraocular muscles. In this review, congenital fibrosis of the extraocular muscles (CFEOM), Duane syndrome, horizontal gaze palsy with progressive scoliosis, congenital ptosis and Moebius syndrome are presented and basic principles of intracellular transport mechanisms and kinesins are discussed., (Georg Thieme Verlag KG Stuttgart · New York.)

Background: The peripherin-2 (PRPH2) gene encodes a photoreceptor-specific transmembrane-protein called peripherin-2 which is critical for the formation and maintenance of rod and cone outer segments. Over 90 different disease-causing mutations in PRPH2 have been identified which cause a variety of forms of macular degeneration and also retinopathia pigmentosa., Patients/material and Methods: This study is a retrospective observational study of 3 patients ascertained over a 5 month period in the ophthalmogenetic consultation of the university ophthalmic clinic. So far, the patients were followed for 8 months at least. Data examined included clinical history, pedigree analysis, ophthalmological examination, fundus photography, autofluorescence imaging, optical coherence tomography, Arden colour test, Goldmann perimetry and detailed electrophysiological assessment. Blood samples were taken for DNA extraction and mutation analysis of PRPH2 and ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, RDH12, RP1L1, RPGR, TIMP3 was performed., Results: All patients had presented with clinically evident maculopathy and visual acuities in the range of 1/50 Metervisus to 0.8 p [dec.]. All had specific electroretinogrammes. All PRPH2 mutations were autosomal dominant. One family was heterozygous for a previously reported missense mutation in the PRPH2 gene c.514C>T, p.R172W. The other patient was heterozygous for a so far non-described PRPH2 deletion and frameshift mutation c.74_77delGGTT, p.W25SfsX12 leading most likely to a truncated, dysfunctional protein. All patients showed a significant, inter-individual phenotypical variability., Conclusion: The data add to the documented phenotypical variability of PRPH2 mutations and describe the c.74_77delGGTT, p.W25SfsX12 mutation within PRPH2 for the first time. FAF, OCT and electrophysiological exams are helpful tools for diagnosis and evaluation of macular disease due to PRPH2 mutations., (Georg Thieme Verlag KG Stuttgart · New York.)

Osteogenic differentiation of human mesenchymal stem cells (hMSCs) into osteoblasts is a prerequisite for subsequent bone formation. Numerous studies have explored osteogenic differentiation under standard tissue culture conditions, which usually employ 21% of oxygen. However, bone precursor cells such as hMSCs reside in stem cell niches of low-oxygen atmospheres. Furthermore, they are subjected to low oxygen concentrations when cultured on three-dimensional scaffolds in vitro, and even more so after transplantation when vascularization has yet to be established. Similarly, hMSCs are exposed to low oxygen in the fracture microenvironment following bony injury. Recent studies revealed that hypoxic preconditioning improves cellular engraftment and survival in low-oxygen atmospheres. In our study we investigated the osteogenic differentiation potential of hMSCs under 2% O(2) (hypoxia) in comparison to a standard tissue culture oxygen atmosphere of 21% (normoxia). We assessed the osteogenic differentiation of hMSCs following hypoxic preconditioning to address whether this pretreatment is beneficial for subsequent differentiation processes as well. To validate our findings we carefully characterized the extent of hypoxia exerted and its effect on cell survival and proliferation. We found that hMSCs proliferate better if cultured under 2% of oxygen. We confirmed that osteogenic differentiation of hMSCs is indeed inhibited if osteogenic induction is carried out under constant hypoxia. Finally, we showed for the first time that hypoxic preconditioning of hMSCs prior to osteogenic induction restores osteogenic differentiation of hMSCs under hypoxic conditions. Collectively, our results indicate that maintaining constant levels of oxygen improves the osteogenic potential of hMSCs and suggest that low oxygen concentrations may preserve the stemness of hMSCs. In addition, our data support the hypothesis that if low-oxygen atmospheres are expected at the site of implantation, hypoxic pretreatment may be beneficial for the cells' subsequent in vivo performance.